Sickle Cell Disease

Question 1

What is the Malarial Parasite?

Answer 1

Plasmodium falciparum

Question 2

Diagnostic screening for newborns, what test?

Answer 2

hemoglobin electrophoresis

Question 3

What two tests are used to confirm results?

Answer 3

DNA sequencing or Restriction Fragment Length Polymorphism analysis

Question 4

What are prenatal tests?

Answer 4

chorionic villous sampling or amniocentesis or screening of newborn blood.

Question 5

Codon 6 to lysine leads to the generation of what sickle disease?

Answer 5

HbC

Question 6

disorder of hemoglobin synthesis

Answer 6

Thalassaemia

Question 7

Hereditary persistence of fetal hemoglobin

Answer 7

HPFH

Question 8

Treatment used to screen for stroke potential?

Answer 8

Transcranial Doppler

Question 9

high blood flow velocity and lower hemoglobin levels can be related to ….? How do you Treat?

Answer 9

Children with SCA, Treatment includes red blood cell transfusion

Question 10

When skeletal muscle or cardiac tissue is damaged, what happens?

Answer 10

myoglobin is released from cells and can turn urine red (myoglobinuria).

Question 11

Accumulation of the heme degradation produces what?

Answer 11

bilirubin is associated with scleral icterus.

Question 12

What are the results of increased bilirubin stored in the gallbladder?

Answer 12

it can precipitate to form stones (upper quadrant ultrasound)

Question 13

what happens when RBC membrane proteins aggregate?

Answer 13

Create negative charge, leading to adherence to vessel walls and altering permeability of the cell resulting in dehydration

Question 14

What are the results of vascular occlusions?

Answer 14

low blood flow or hypoxia

which leads to necrosis and pain

Question 15

what is the benefit of low iron?

Answer 15

results in decreased hemoglobin S concentrations and decreased sickling

Question 16

What genetic inheritance is considered with sickle cell disease?

Answer 16

Autosomal recessive

Question 17

What sickle cell diseases affect the same gene? (2)

Answer 17

Beta-Thalassemia and sickle cell trait

Question 18

what amino acids are replaced and substituted in SCD?

Answer 18

All have Val for Glu substitution but there can be variation in γ-globin expression

Question 19

what happens due to decreased spleen function? how are these prevented?

Answer 19

Pneumococcal sepsis and meningitis. Penicillin given prophylactically and immunization

Question 20

How do you treat SCD during crisis?

Answer 20

Narcotics, hydration to increase blood volume, and nasal inhalation of oxygen to combat hypoxia

Question 21

Treatments to replace the sickle erythrocyte progenitors with normal erythrocyte progenitors?

Answer 21

Bone marrow or cord blood transplant for individuals with very severe cases

Question 22

What is the result of blood transfusion?

Answer 22

suppress endogenous RBC production if at risk for stroke. Blood transfusion reduces the HbS concentration to below 30% and suppresses endogenous erythropoiesis.

Question 23

Explain Hydroxyurea…please?!!

Answer 23

increases fetal hemoglobin levels possibly through changes in
microRNA expression, but is carcinogenic

Question 24

what role does BCL11A have in hemoglobin?

Answer 24

and was found to inhibit gamma expression after birth